Harper Flynn’s HK1 and CACNA1E mutations among rarest in world

Harper Flynn has two conditions so rare even Google has no answers but her family is determined to make each day matter and make a difference.

Harper Flynn, 3, suffers from the rare genetic diseases HK1 & CACNA1E, causing neurological and developmental issues. Picture: Deane Woods photography

Google doesn’t have the answers the Flynn family needs. Nor do many of the world’s greatest medical minds.

Beyond understanding that Harper Flynn, the little girl with bright blue eyes and a smile that can light up a room, was born with a rare gene mutation, the Sarina family is facing many unknowns.

But they’re facing that uncertainty the same way they have since Harper, 3, was diagnosed in late 2019.

Harper was born with two genes that were “missing all the bits and pieces” that make up a whole human body, mum Michelle said.

So rare are the genetic diseases – HK1 and CACNA1E – that the world’s most powerful search engine holds few results with information about the conditions.

There are 33 people in the world diagnosed with HK1. Just seven with CACNA1E.

CACNA1E causes significant development delays, significant intellectual impairment and epilepsy – something Harper has not yet developed.

The other mutation – HK1 – affects her vision.

Sisterly adoration … the Flynn sisters Hayley, 5, with Harper, 3, and Madison, eight months. Picture: Deane Woods photography

“The uncertainty of the future and whatnot – things like if there is a life expectancy to it – things like that are really scary,” Michelle said.

“I have found a Facebook page and some of the kids are worse than Harper; she is probably on the better scale of things after some early intervention.

“I knew from the start when she was born something was wrong as she wasn’t developing like Hayley.

“All the physio has been a big help to getting Harper to where she is.”

Harper, who was diagnosed four weeks before her baby sister Madison was due to be born, cannot walk or talk or feed herself.

Harper Flynn, 3, suffers from the rare genetic diseases HK1 & CACNA1E, causing neurological and developmental issues.

Harper Flynn, 3, is learning to walk with the help of a walker.

Michelle said it was like having two babies in the house but the bond between siblings was strong, with Harper idolising her sisters but especially Madison, now eight months old.

“Harper’s future is very unknown and we don’t know how it will progress,” Michelle said.

“With the physio she is learning on a walker (to walk) but it’s very early stages. The walker takes all her weight and she pushes herself up, and she has started crawling.

“She just idolises Madison and they chase and laugh together.

“I do sort of foresee Harper walking so if I can hope for that and something better happens, I’ll be thrilled.”

Harper is a 2021 Jeans for Genes ambassador and the Flynn family is aiming to raise $5000 to help find treatments and cures for the one in 20 children facing a birth defect or genetic disease.

The Flynn family – Ben Flynn holding Harper, mum Michelle with Madison and eldest daughter Hayley. Picture: Deane Woods photography

Ben Flynn with daughter Harper Flynn, 3, who suffers from the rare genetic diseases HK1 & CACNA1E, causing neurological and developmental issues.

The Harpertastic team has raised about $1500 so far, and the Children’s Medical Research Institute will double any donations made on Thursday.

Michelle and NRG plus Personal Training have organised a gruelling 1000 travelling burpees challenge for Saturday, August 7, from 8am outside Mackay Regional Council on Gordon Street.

The tag-team event, Michelle said, would be a physical challenge and while helping fundraise for genes research, would also remind people of the challenges people did not see.

“So many people out there that generally go about their day but people don’t know what they’re going through,” Michelle said.

“Just because it is not visible, doesn’t mean it is not there.

“Jeans for Genes is about raising money for all the kids who don’t have a label.”

The Flynn family is open and transparent about their daily lives with Harper’s journey on Instagram, sharing the good, bad and in between to help inspire others.

“It shows the dark days will be light again,” Michelle said.

“We don’t want Harper to miss out on opportunities; we want to keep moving forward with it.”

Follow the Harpertastic journey on Instagram here.

Donate and support the Harpertastic Jeans for Genes Day fundraiser here.

And find out more on the event here.